Source: ORPHANET

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB 		crystallin alpha B 0.515 0.731 2.2E-02
CUI: C1837317
Disease: Alpha-B Crystallinopathy
Alpha-B Crystallinopathy 		disease 0.900 None 1.000 1 0 1998 2012
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB 		crystallin alpha B 0.515 0.731 2.2E-02
CUI: C3151236
Disease: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED
MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED 		disease 0.700 None 1.000 1 0 2011 2011
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB 		crystallin alpha B 0.515 0.731 2.2E-02
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		disease 0.310 None 1.000 3 0 1998 2015
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB 		crystallin alpha B 0.515 0.731 2.2E-02
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		disease 0.310 None 1.000 3 0 1998 2015
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB 		crystallin alpha B 0.515 0.731 2.2E-02
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		disease 0.300 None 1.000 2 0 2006 2006
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB 		crystallin alpha B 0.515 0.731 2.2E-02
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		disease 0.300 None 1.000 2 0 2006 2014